Canonical Allele Identifier: CA330857233
Gene: EFNB1 HGNC NCBI

Linked Data

dbSNP Id: rs989839943
gnomAD v2: X-68049760-T-C
gnomAD v3: X-68829917-T-C
gnomAD v4: X-68829917-T-C
MyVariant Identifiers: chrX:g.68049760T>C (hg19) chrX:g.68829917T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829917T>C , CM000685.2:g.68829917T>C GRCh38
NC_000023.10:g.68049760T>C , CM000685.1:g.68049760T>C GRCh37
NC_000023.9:g.67966485T>C NCBI36
NG_008887.1:g.5921T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.128+13T>C MANE Select ENSP00000204961.4:n.128+13T>C
ENST00000204961.4:c.128+13T>C ENSP00000204961.4:n.128+13T>C
NM_004429.4:c.128+13T>C NP_004420.1:n.128+13T>C
NM_004429.5:c.128+13T>C MANE Select NP_004420.1:n.128+13T>C
Search 100 bp 5'
Search 100 bp 3'